Clinical and Laboratory Characteristics in Children with Alagille Syndrome: Experience of a Single Center

Figures & data

Figure 1 Butterfly vertebrae seen in the thoracic region in children with Alagille syndrome (arrow showed).

Figure 2 Liver biopsy histology showed the absence of bile ducts in the portal area in children with Alagille syndrome.

Table 1 Blood Biochemical Examination Results of 14 Children with Alagille Syndrome

Biochemical Indexes	Minima	Maxima
Total bilirubin (μmol/L)	4.87	494.41	130.73±87.36
Conjugated bilirubin (μmol/L)	0.70	417.00	110.35±59.72
Unconjugated bilirubin (μmol/L)	4.17	79.72	27.64±26.43
Alanine transaminase (U/L)	28.00	521.00	164.21±142.77
Aspartate transaminase (U/L)	27.00	654.00	176.91±172.14
Alkaline phosphatase (U/L)	100.00	952.00	397.36±213.02
γ-glutamyl transpeptidase (U/L)	15.00	465.00	156.01±152.14
Total bile acid (mmoI/L)	4.00	364.00	129.07±110.85
Total cholesterol (mmoI/L)	1.14	10.35	5.06±2.71
Triacylglycerol (mmoI/L)	0.45	4.11	1.51±1.01
High-density lipoprotein (mmoI/L)	0.23	3.44	1.40±1.03
Low-density lipoprotein (mmoI/L)	0.21	5.52	2.53±1.71

Table 2 Genetic Test Results of 12 Children with Alagille Syndrome

Gender	Mutant Gene	Nucleotide (Amino Acid) Changes	Source of Variation	Literature Report
Female	JAG1	c.81+1G>C/p.?	New variants	Reported
Male	JAG1	c.560G>A(p.c187Y)	Mother	Unreported
Female	NOTCH2	c.3706C>7(p.Leu1236Phe)	Mother	Unreported
Female	NOTCH2	c.2404A>G(p.Asn802Asp)	Father	Unreported
Male	JAG1	c.439+1G>C	New variants	Unreported
Male	JAG1	c.270dup(p.Pro91A1afs*53)	New variants	Unreported
Female	JAG1	c.5000G>A/p.Trp167*	New variants	Unreported
Male	JAG1	c.439+1G>T	Spontaneous	Unreported
Female	JAG1	c.753C>A (p.Cys251*)	Spontaneous	Reported
Female		No mutations
Male		No mutations
Male		No mutations